ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) (rs80338719)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000006372 SCV000267505 pathogenic Citrullinemia type II 2016-03-18 criteria provided, single submitter reference population
Baylor Genetics RCV001004531 SCV001163578 pathogenic Neonatal intrahepatic cholestasis caused by citrin deficiency criteria provided, single submitter clinical testing
Invitae RCV001247797 SCV001421241 pathogenic Citrin deficiency 2020-09-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser225*) in the SLC25A13 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs80338719, ExAC 0.01%). This variant has been observed in individuals affected with citrin deficiency (PMID: 12512993, 16449956, 29659898). ClinVar contains an entry for this variant (Variation ID: 6004). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in SLC25A13 are known to be pathogenic (PMID: 10369257, 14680984, 27405544). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006372 SCV000026554 pathogenic Citrullinemia type II 1999-06-01 no assertion criteria provided literature only
GeneReviews RCV000006372 SCV000041263 pathologic Citrullinemia type II 2012-01-05 no assertion criteria provided curation Converted during submission to Pathogenic.

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